PEDIATRICS Vol. 91 No. 2 February 1993, pp. 398-402
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Prader-Willi Syndrome: Consensus Diagnostic Criteria

Vanja A. Holm MD1, Suzanne B. Cassidy MD2, Merlin G. Butler MD, PhD3, Jeanne M. Hanchett MD4, Louise R. Greenswag PhD5, Barbara Y. Whitman PhD6, and Frank Greenberg MD7

1 From the Child Development and Mental Retardation Center and Department of Pediatrics, University of Washington School of Medicine, Seattle, WA
2 From the Division of Genetics/Dysmorphology, Department of Pediatrics, College of Medicine, University of Arizona, Tucson, AZ
3 From the Division of Genetics, Department of Pediatrics and Pathology, Vanderbilt University Medical Center, Nashville, TN
4 From the The Rehabilitation Institute, Pittsburgh, PA
5 From the Division of Developmental Disabilities and The Iowa Child Health Specialty Clinics, Department of Pediatrics, The University of Iowa Hospitals and Clinics, Iowa City, IA
6 From the Department of Pediatrics, St Louis University School of Medicine, St Louis, MO
7 From the Institute for Molecular Genetics and Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX

The diagnosis of Prader-Willi syndrome (PWS) is based on clinical findings that change with age. Hypotonia is prominent in infancy. Obesity, mild mental retardation or learning disability, and behavior problems, especially in association with food and eating result in a debilitating physical and developmental disability in adolescence and adulthood. No consistent biological marker is yet available for PWS in spite of recent research activity in cytogenetics and molecular genetics. Diagnostic criteria for PWS were developed by consensus of seven clinicians experienced with the syndrome in consultation with national and international experts. Two scoring systems are provided: one for children aged 0 to 36 months and another one for children aged 3 years to adults. These criteria will aid in recognition of the syndrome in hypotonic infants and in obese, mildly retarded, behaviorally disturbed adolescents and adults. They will also ensure uniform diagnosis for future clinical and laboratory research in PWS.

Key Words: Prader-Willi syndrome • diagnostic criteria

Submitted on May 8, 1992
Accepted on August 20, 1992




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